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P5CS expression study in a new family with ALDH18A1‐associated hereditary spastic paraplegia SPG9

P5CS expression study in a new family with ALDH18A1‐associated hereditary spastic paraplegia SPG9

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_7aa5233fd46146998c984e96445517f0

P5CS expression study in a new family with ALDH18A1‐associated hereditary spastic paraplegia SPG9

About this item

Full title

P5CS expression study in a new family with ALDH18A1‐associated hereditary spastic paraplegia SPG9

Publisher

United States: John Wiley & Sons, Inc

Journal title

Annals of clinical and translational neurology, 2019-08, Vol.6 (8), p.1533-1540

Language

English

Formats

Publication information

Publisher

United States: John Wiley & Sons, Inc

More information

Scope and Contents

Contents

In 2015–2016, we and others reported ALDH18A1 mutations causing dominant (SPG9A) or recessive (SPG9B) spastic paraplegia. In vitro production of the ALDH18A1 product, Δ1‐pyrroline‐5‐carboxylate synthetase (P5CS), appeared necessary for cracking SPG9 disease‐causing mechanisms. We now describe a baculovirus–insect cell system that yields mgs of pure...

Alternative Titles

Full title

P5CS expression study in a new family with ALDH18A1‐associated hereditary spastic paraplegia SPG9

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_doaj_primary_oai_doaj_org_article_7aa5233fd46146998c984e96445517f0

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_7aa5233fd46146998c984e96445517f0

Other Identifiers

ISSN

2328-9503

E-ISSN

2328-9503

DOI

10.1002/acn3.50821

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